ClinVar Miner

List of variants in gene KCNQ1 reported as likely pathogenic by Invitae

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Total variants: 20
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HGVS dbSNP
NC_000011.10:g.(?_2570628)_(2572986_?)del
NM_000218.2(KCNQ1):c.1013C>T (p.Ser338Phe) rs199472758
NM_000218.2(KCNQ1):c.1140G>T (p.Arg380Ser) rs199472771
NM_000218.2(KCNQ1):c.1515-2_1515-1delAG
NM_000218.2(KCNQ1):c.1571T>G (p.Val524Gly) rs199472790
NM_000218.2(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.2(KCNQ1):c.1685+1G>A rs794728531
NM_000218.2(KCNQ1):c.1686-2A>G rs878854350
NM_000218.2(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.2(KCNQ1):c.1702G>C (p.Gly568Arg)
NM_000218.2(KCNQ1):c.1894dupA (p.Arg632Lysfs) rs397508105
NM_000218.2(KCNQ1):c.430A>G (p.Thr144Ala) rs199473451
NM_000218.2(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.2(KCNQ1):c.605-1G>C
NM_000218.2(KCNQ1):c.612C>G (p.Ile204Met) rs199473455
NM_000218.2(KCNQ1):c.684-2A>C
NM_000218.2(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000218.2(KCNQ1):c.724G>T (p.Asp242Tyr) rs199472712
NM_000218.2(KCNQ1):c.830C>G (p.Ser277Trp) rs199472730
NM_000218.2(KCNQ1):c.922-2A>G

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